25 research outputs found
Human and mouse essentiality screens as a resource for disease gene discovery.
The identification of causal variants in sequencing studies remains a considerable challenge that can be partially addressed by new gene-specific knowledge. Here, we integrate measures of how essential a gene is to supporting life, as inferred from viability and phenotyping screens performed on knockout mice by the International Mouse Phenotyping Consortium and essentiality screens carried out on human cell lines. We propose a cross-species gene classification across the Full Spectrum of Intolerance to Loss-of-function (FUSIL) and demonstrate that genes in five mutually exclusive FUSIL categories have differing biological properties. Most notably, Mendelian disease genes, particularly those associated with developmental disorders, are highly overrepresented among genes non-essential for cell survival but required for organism development. After screening developmental disorder cases from three independent disease sequencing consortia, we identify potentially pathogenic variants in genes not previously associated with rare diseases. We therefore propose FUSIL as an efficient approach for disease gene discovery
<I>Evaporation from a Water Surface Exposed to the Natural Environment</I>
IngenieursweseMeganiese & Megatroniese IngenieurswesePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
A Hybrid Dephlegmator for Incorporation into an Air-Cooled Steam Condenser
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A Numerical Investigation of the Errors Associated with the Scaling of Axial Flow Fan Performance Characteristics
IngenieursweseMeganiese & Megatroniese IngenieurswesePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
Numerical Investigation of the Effect of Fan Performance on Forced Draught Air-Cooled Heat Exchanger Plenum Chamber Aerodynamic Behaviour
IngenieursweseMeganiese & Megatroniese IngenieurswesePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
<I>Loss Coefficient Correlation for Wet-Cooling Tower Fills</I>
IngenieursweseMeganiese & Megatroniese IngenieurswesePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
A Critical Investigation into the Heat and Mass Transfer Analysis of Crossflow Wet-Cooling Towers
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Contributors to increased fan inlet temperature at an air-cooled steam condenser
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Fan inlet temperature considerations at an ACC
IngenieursweseMeganiese & Megatroniese IngenieurswesePlease help us populate SUNScholar with the post print version of this article. It can be e-mailed to: [email protected]
Thermo-economic optimization of a solar chimney power plant.
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